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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 11-108138934-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108138934&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 108138934,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000265838.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.472A>G",
"hgvs_p": "p.Asn158Asp",
"transcript": "NM_000019.4",
"protein_id": "NP_000010.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 427,
"cds_start": 472,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": "ENST00000265838.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.472A>G",
"hgvs_p": "p.Asn158Asp",
"transcript": "ENST00000265838.9",
"protein_id": "ENSP00000265838.4",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 427,
"cds_start": 472,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": "NM_000019.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "n.371A>G",
"hgvs_p": null,
"transcript": "ENST00000531813.5",
"protein_id": "ENSP00000435965.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.472A>G",
"hgvs_p": "p.Asn158Asp",
"transcript": "NM_001386677.1",
"protein_id": "NP_001373606.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 434,
"cds_start": 472,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.472A>G",
"hgvs_p": "p.Asn158Asp",
"transcript": "ENST00000672354.1",
"protein_id": "ENSP00000500490.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 434,
"cds_start": 472,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 1442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Asn68Asp",
"transcript": "NM_001386681.1",
"protein_id": "NP_001373610.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 337,
"cds_start": 202,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Asn68Asp",
"transcript": "NM_001386682.1",
"protein_id": "NP_001373611.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 337,
"cds_start": 202,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 1840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Asn68Asp",
"transcript": "NM_001386685.1",
"protein_id": "NP_001373614.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 337,
"cds_start": 202,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Asn68Asp",
"transcript": "NM_001386686.1",
"protein_id": "NP_001373615.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 337,
"cds_start": 202,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 1636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Asn68Asp",
"transcript": "NM_001386687.1",
"protein_id": "NP_001373616.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 337,
"cds_start": 202,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Asn68Asp",
"transcript": "NM_001386688.1",
"protein_id": "NP_001373617.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 337,
"cds_start": 202,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Asn68Asp",
"transcript": "NM_001386689.1",
"protein_id": "NP_001373618.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 337,
"cds_start": 202,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Asn68Asp",
"transcript": "NM_001386690.1",
"protein_id": "NP_001373619.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 337,
"cds_start": 202,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Asn68Asp",
"transcript": "NM_001386691.1",
"protein_id": "NP_001373620.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 337,
"cds_start": 202,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Asn68Asp",
"transcript": "ENST00000672284.1",
"protein_id": "ENSP00000500444.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 337,
"cds_start": 202,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Asn68Asp",
"transcript": "ENST00000673531.1",
"protein_id": "ENSP00000500163.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 337,
"cds_start": 202,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 1498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Asn59Asp",
"transcript": "NM_001386679.1",
"protein_id": "NP_001373608.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 328,
"cds_start": 175,
"cds_end": null,
"cds_length": 987,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Asn53Asp",
"transcript": "NM_001386678.1",
"protein_id": "NP_001373607.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 322,
"cds_start": 157,
"cds_end": null,
"cds_length": 969,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Asn53Asp",
"transcript": "ENST00000672907.2",
"protein_id": "ENSP00000500928.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 322,
"cds_start": 157,
"cds_end": null,
"cds_length": 969,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.109A>G",
"hgvs_p": "p.Asn37Asp",
"transcript": "ENST00000672367.1",
"protein_id": "ENSP00000500209.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 306,
"cds_start": 109,
"cds_end": null,
"cds_length": 921,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 1174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.277A>G",
"hgvs_p": "p.Asn93Asp",
"transcript": "ENST00000528370.1",
"protein_id": "ENSP00000436096.1",
"transcript_support_level": 2,
"aa_start": 93,
"aa_end": null,
"aa_length": 135,
"cds_start": 277,
"cds_end": null,
"cds_length": 408,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "n.215A>G",
"hgvs_p": null,
"transcript": "ENST00000534773.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "n.567A>G",
"hgvs_p": null,
"transcript": "ENST00000671707.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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}
],
"gene_symbol": "ACAT1",
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"dbsnp": "rs148639841",
"frequency_reference_population": 0.00004832624,
"hom_count_reference_population": 0,
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"gnomad_exomes_af": 0.0000526718,
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"computational_score_selected": 0.9113398194313049,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.817,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4654,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.601,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000265838.9",
"gene_symbol": "ACAT1",
"hgnc_id": 93,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.472A>G",
"hgvs_p": "p.Asn158Asp"
}
],
"clinvar_disease": "ACAT1-related disorder,Deficiency of acetyl-CoA acetyltransferase,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6 LP:2",
"phenotype_combined": "not provided|Deficiency of acetyl-CoA acetyltransferase|ACAT1-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}